Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
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Open Access
- 31 July 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (2), 254-260
- https://doi.org/10.1016/j.ajhg.2008.07.004
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in BloodAmerican Journal of Human Genetics, 2008
- Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutationJournal of Medical Genetics, 2007
- Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in childrenAnnals of Neurology, 2007
- Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup BackgroundAmerican Journal of Human Genetics, 2007
- Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutationJournal of Medical Genetics, 2006
- The Power to Detect Disease Associations with Mitochondrial DNA HaplogroupsAmerican Journal of Human Genetics, 2006
- Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy PedigreesAmerican Journal of Human Genetics, 2006
- Mitochondrial DNA mutations in human diseaseNature Reviews Genetics, 2005
- Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitusExperimental and Clinical Endocrinology & Diabetes, 2001
- Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult PopulationAmerican Journal of Human Genetics, 1998